Patient-Generated Collections for Organizing Electronic Health Record Data to Elevate Personal Meaning, Improve Actionability, and Support Patient-Health Care Provider Communication: Think-Aloud Evaluation Study.

Background: Through third party applications, patients in the United States have access to their electronic health record (EHR) data from multiple health care providers. However, these applications offer only a predefined organization of these records by type, time stamp, or provider, leaving out meaningful connections between them. This prevents patients from efficiently reviewing, exploring, and making sense of their EHR data based on current or ongoing health issues.

Alerts and Collections for Automating Patients' Sensemaking and Organizing of Their Electronic Health Record Data for Reflection, Planning, and Clinical Visits: Qualitative Research-Through-Design Study.

Background: Electronic health record (EHR) data from multiple providers often exhibit important but convoluted and complex patterns that patients find hard and time-consuming to identify and interpret. However, existing patient-facing applications lack the capability to incorporate automatic pattern detection robustly and toward supporting making sense of the patient's EHR data. In addition, there is no means to organize EHR data in an efficient way that suits the patient's needs and makes them more actionable in real-life settings.

New Ways for Patients to Make Sense of Their Electronic Health Record Data Using the Discovery Web Application: Think-Aloud Evaluation Study.

Background: In the United States, patients can access their electronic health record (EHR) data through patient portals. However, current patient portals are mainly focused on a single provider, with very limited data sharing capabilities and put low emphasis on independent sensemaking of the EHR data. This makes it very challenging for patients to switch between different portals and aggregate the data to obtain a complete picture of their medical history and to make sense of it.

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.

Maximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report here the Variation Representation Specification (VRS, pronounced "verse"), an extensible framework for the computable representation of variation that complements contemporary human-readable and flat file standards for genomic variation representation. VRS provides semantically precise representations of variation and leverages this design to enable federated identification of biomolecular variation with globally consistent and unique computed identifiers.

Computational prediction and validation of specific EmbR binding site on PknH.

Tuberculosis drug resistance continues to threaten global health but the underline molecular mechanisms are not clear. Ethambutol (EMB), one of the well-known first - line drugs in tuberculosis treatment is, unfortunately, not free from drug resistance problems. Genomic studies have shown that some genetic mutations in (Mtb) EmbR, and EmbC/A/B genes cause EMB resistance.

Patient-led data sharing for clinical bioinformatics research: USCDI and beyond.

The 21st Century Cures Act, passed in 2016, and the Final Rules it called for create a roadmap for enabling patient access to their electronic health information. The set of data to be made available, as determined by the Office of the National Coordinator for Health IT through the US Core Data for Interoperability expansion process, will impact the value creation of this improved data liquidity. In this commentary, we look at the potential for significant value creation from USCDI in the context of clinical bioinformatics research and advocate for the research community's involvement in the USCDI process to propel this value creation forward.

FHIR Genomics: enabling standardization for precision medicine use cases.

The development of Fast Healthcare Interoperability Resources (FHIR) Genomics, a feasible and efficient method for exchanging complex clinical genomic data and interpretations, is described. FHIR Genomics is a subset of the emerging Health Level 7 FHIR standard and targets data from increasingly available technologies such as next-generation sequencing. Much care and integration of feedback have been taken to ease implementation, facilitate wide-scale interoperability, and enable modern app development toward a complete precision medicine standard.

SMART precision cancer medicine: a FHIR-based app to provide genomic information at the point of care.

Background: Precision cancer medicine (PCM) will require ready access to genomic data within the clinical workflow and tools to assist clinical interpretation and enable decisions. Since most electronic health record (EHR) systems do not yet provide such functionality, we developed an EHR-agnostic, clinico-genomic mobile app to demonstrate several features that will be needed for point-of-care conversations.

Methods: Our prototype, called Substitutable Medical Applications and Reusable Technology (SMART)® PCM, visualizes genomic information in real time, comparing a patient's diagnosis-specific somatic gene mutations detected by PCR-based hotspot testing to a population-level set of comparable data.

SMART on FHIR: a standards-based, interoperable apps platform for electronic health records.

Objective: In early 2010, Harvard Medical School and Boston Children's Hospital began an interoperability project with the distinctive goal of developing a platform to enable medical applications to be written once and run unmodified across different healthcare IT systems. The project was called Substitutable Medical Applications and Reusable Technologies (SMART).

Methods: We adopted contemporary web standards for application programming interface transport, authorization, and user interface, and standard medical terminologies for coded data.

SMART on FHIR Genomics: facilitating standardized clinico-genomic apps.

Background: Supporting clinical decision support for personalized medicine will require linking genome and phenome variants to a patient's electronic health record (EHR), at times on a vast scale. Clinico-genomic data standards will be needed to unify how genomic variant data are accessed from different sequencing systems.

Methods: A specification for the basis of a clinic-genomic standard, building upon the current Health Level Seven International Fast Healthcare Interoperability Resources (FHIR®) standard, was developed.

Seeing the forest through the trees: uncovering phenomic complexity through interactive network visualization.

Our aim was to uncover unrecognized phenomic relationships using force-based network visualization methods, based on observed electronic medical record data. A primary phenotype was defined from actual patient profiles in the Multiparameter Intelligent Monitoring in Intensive Care II database. Network visualizations depicting primary relationships were compared to those incorporating secondary adjacencies.

Are Meaningful Use Stage 2 certified EHRs ready for interoperability? Findings from the SMART C-CDA Collaborative.

Background And Objective: Upgrades to electronic health record (EHR) systems scheduled to be introduced in the USA in 2014 will advance document interoperability between care providers. Specifically, the second stage of the federal incentive program for EHR adoption, known as Meaningful Use, requires use of the Consolidated Clinical Document Architecture (C-CDA) for document exchange. In an effort to examine and improve C-CDA based exchange, the SMART (Substitutable Medical Applications and Reusable Technology) C-CDA Collaborative brought together a group of certified EHR and other health information technology vendors.

The SMART Platform: early experience enabling substitutable applications for electronic health records.

Objective: The Substitutable Medical Applications, Reusable Technologies (SMART) Platforms project seeks to develop a health information technology platform with substitutable applications (apps) constructed around core services. The authors believe this is a promising approach to driving down healthcare costs, supporting standards evolution, accommodating differences in care workflow, fostering competition in the market, and accelerating innovation.

Materials And Methods: The Office of the National Coordinator for Health Information Technology, through the Strategic Health IT Advanced Research Projects (SHARP) Program, funds the project.

Healthcare IT usability and suitability for clinical needs: challenges of design, workflow, and contractual relations.

While healthcare information technology (HIT) offers extraordinary promise of clinical improvement and greater efficiencies, the realization of the promise must confront and overcome a number of challenges caused by incomplete and inappropriate software design. In this paper, we review several types of HIT design and workflow decisions that limit the value and utility of HIT in electronic health (medical) record (EHR/EMR), computerized physician order entry (CPOE), and electronic medication administration record (eMAR) systems. While remedies for problems of design or workflow may be either easy or difficult, , the industry creates additional barriers in the contractual relationships it creates between itself (HIT vendors) and the clinical facilities (hospitals, clinics, and physician offices) that purchase its systems.